Results 91 to 100 of about 18,047 (247)
Clinical manifestations of dual‐gene variants in retinitis pigmentosa
Acta Ophthalmologica, EarlyView.Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram +11 more
wiley +1 more source
Spontaneous Spongiform Brainstem Degeneration in a Young Mouse Lemur (Microcebus murinus) with Conspicuous Behavioral, Motor, Growth, and Ocular Pathologies [PDF]
, 2018 Here we report a case of severe growth retardation and neurologic abnormalities in a female gray mouse lemur (Microcebus murinus), a small NHP species for which the genomic sequence recently became available.
Lempp, Charlotte +13 more
core +1 more source
Nippon Jibiinkoka Gakkai Kaiho, 1997 Although it has been speculated that benign paroxysmal positional vertigo (BPPV) derives from the utricle or posterior semicircular canal, the origin of BPPV is still controversial. In this study, we investigated the role of the utricle and semicircular canals (especially the vertical semicircular canal) relative to BPPV by three-dimensional analysis ...
openaire +3 more sources
Acta Ophthalmologica, EarlyView.Abstract Purpose Dexamethasone eye drops are being introduced off‐label to prevent progression of severe retinopathy of prematurity (ROP). We evaluated ophthalmologic outcomes in early childhood after postnatal topical dexamethasone exposure in pre‐term infants at a standardized follow‐up examination.
Mariya Petrishka‐Lozenska +3 more
wiley +1 more source
Missed Diagnosis in Neuro-Ophthalmology [PDF]
, 1980 Presenting Symptom: downbeat nystagmus on up gaze. 28 year old male; downbeat nystagmus; 10 year history of headaches provoked by coughing or excessive straining (bitemporal feeling of pressure with occasional vertigo); 2 year history of increasing ...
David G. Cogan, MD (1908-1993)
core
Australian Veterinary Journal, EarlyView.Objective To report 45 cases of melioidosis in dogs and cats from northern Australia and analyse trends in epidemiology, clinical presentation, pathogenesis and response to treatment over a 27‐year period. Design Retrospective and prospective analysis of clinical records.
K Lee +6 more
wiley +1 more source
Vestibular Neuritis with + Head Impulse Test and Unidirectional Nystagmus [PDF]
, 2017 Vestibular neuritis is the most common cause of the acute vestibular syndrome, which is characterized by continuous vertigo and spontaneous nystagmus lasting days.
Tony Brune, DO; Daniel R. Gold, DO
core
Clinical &Experimental Ophthalmology, EarlyView.ABSTRACT Background The lack of validated and sensitive clinical endpoints remains a major challenge in the design of gene therapy trials for inherited retinal dystrophies (IRDs). This prospective longitudinal cohort study describes the natural disease progression of IRDs caused by pathogenic mutations in the Crumbs homologue 1 (CRB1) gene, and ...
Jessica S. Karuntu +15 more
wiley +1 more source
GAA‐FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult‐Onset Ataxia
Clinical Genetics, EarlyView.GAA‐FGF14 ataxia is a frequent cause of both familial and sporadic cerebellar ataxia. If symptoms are consistent, targeted testing of the FGF14 locus should be considered as a first‐line approach, as the diagnostic yield is up to 50%. ABSTRACT GAA‐FGF14 ataxia (spinocerebellar ataxia 27B, SCA27B), identified in 2023, is a major cause of adult‐onset ...
Eva‐Maria Kraus +7 more
wiley +1 more source